Illustrating the relevance of updated diagnostic criteria for sporadic Creutzfeldt-Jakob disease: a teaching neurocase

BMJ Case Rep. 2013 Aug 28:2013:bcr2013010061. doi: 10.1136/bcr-2013-010061.

Abstract

A 75-year-old woman with unremarkable medical history, consulted for a 5-month history of involuntary shaking of left upper limb. Clinical examination revealed polyminimyoclonus of the upper limbs with cogwheel-like rigidity, hyperreflexia, bradykinesia, inconstant spastic-like rigidity in the lower limbs and a stiff and cautious gait. These symptoms, together with the memory impairment found on neuropsychological assessment yielded suspicion for a subacute encephalopathy probably due to a non-conventional infectious agent. There was no 14-3-3 protein found in the cerebrospinal fluid and no periodic sharp wave complexes on EEG. These findings made the diagnosis of Creutzfeldt-Jakob disease (CJD) rather unlikely according to the current WHO diagnostic criteria. However, typical isolated cortical hyperintensity of right temporal, parietal and occipital lobes on MRI suggested a probable CJD and prompted cerebral biopsy which confirmed the diagnosis. This article emphasises the need to update the current WHO criteria by including radiological findings.

Publication types

  • Case Reports

MeSH terms

  • 14-3-3 Proteins / cerebrospinal fluid
  • Aged
  • Biopsy
  • Cerebral Cortex* / pathology
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / pathology
  • Electroencephalography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Sensitivity and Specificity
  • World Health Organization

Substances

  • 14-3-3 Proteins

Supplementary concepts

  • Creutzfeldt-Jakob Disease, Sporadic